HGVS | Genome Assembly |
---|---|
NC_000003.12:g.172448270_172448283del , CM000665.2:g.172448270_172448283del | GRCh38 |
NC_000003.11:g.172166060_172166073del , CM000665.1:g.172166060_172166073del | GRCh37 |
NC_000003.10:g.173648754_173648767del | NCBI36 |
NG_021159.1:g.5174_5187del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000241256.3:c.131_144del MANE Select | ENSP00000241256.2:p.Ala44AspfsTer? | |
ENST00000241256.2:c.131_144del | ENSP00000241256.2:p.Ala44AspfsTer? | |
ENST00000427970.1:c.131_144del | ENSP00000395344.1:p.Ala44AspfsTer? | |
NM_004122.2:c.131_144del | NP_004113.1:p.Ala44AspfsTer? | |
NM_198407.2:c.131_144del MANE Select | NP_940799.1:p.Ala44AspfsTer? |